Orofaciodigital syndrome 2

Other Names: OFD2; OFD syndrome 2; Oral-facial-digital syndrome type 2; Mohr syndrome; Orofaciodigital syndrome II; Oral facial digital syndrome 2; Oral facial digital syndrome type 2; OFDS 2

Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes.

Cause

OFDS 2 is suspected to be a genetic disorder, given reports of families in which it appears to be inherited in an autosomal recessive inheritance pattern. The causative gene is not known at this time.

Inheritance

Autosomal recessive inheritance, a 25% chance

OFDS 2 is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to be affected
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to not be affected and not be a carrier

Signs and symptoms

Although the signs and symptoms that occur in people with OFDS 2 may vary, the following findings may be present. Facial findings including nodules (bumps) of the tongue, a split in the lip and/or palate (cleft lip and/or palate), a thickened frenulum (cord of tissue) under the tongue or between the lip and gum, and an unusually wide nasal bridge resulting in widely spaced eyes (dystopia canthorum) Finger and toe findings including narrow, short fingers and toes (clinobrachydactyly), syndactyly (fused fingers and toes), presence of more than five fingers on hands and/or five toes on feet (polydactyly), and a Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings include: conductive hearing loss, central nervous system impairments (porencephaly and hydrocephaly), intellectual disabilities, increased susceptibility to respiratory (lung) infections, and heart defects (atrioventricular canal [endocardial cushion] defects).

Diagnosis

There are no specific tests at this time to confirm diagnosis of OFD syndrome type 2.However,diagnosis is made on the basis of the clinical signs and symptoms presented.

Treatment

Although there is no one treatment for OFDS 2, there may be ways for a team of specialists to manage the signs and symptoms present in each individual. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.

Prognosis

The signs and symptoms associated with OFDS 2 may vary from person to person, even within the same family. Therefore, the challenges faced by one person with the syndrome may be completely different than someone else with OFDS 2. Given the variability of the disorder, it may be useful to speak with the patient's health care provider in order to have a better understanding of the different complications that might arise based on the signs and symptoms present in that patient.

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NIH genetic and rare disease info

• NIH info on Orofaciodigital syndrome 2

Orofaciodigital syndrome 2 is a rare disease.

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